Children’s Hospital of Philadelphia (CHOP) announced that Katherine High, MD, Jean Bennett, MD, PhD, and Albert Maguire, MD, received the Breakthrough Prize in Life Sciences on Saturday, April 18 in Los Angeles, honoring the CHOP and Penn Medicine team’s pioneering work that produced the first FDA-approved gene therapy for an inherited form of blindness. The award, presented at the high-profile ceremony dubbed the “Oscars of Science,” recognized their development of a treatment that substantially restores sight for people with Leber congenital amaurosis (LCA).
In addition to the research team, Hannah Reif, a CHOP patient who was one of the first recipients of the FDA-approved gene therapy for LCA, attended the event with her family. Attendees watched a video documenting Hannah’s treatment.
Introduced by fashion model and television personality Gigi Hadid, Hannah also spoke as part of the event program. During her speech, she thanked CHOP and her doctors for their dedication and perseverance and described the new confidence the treatment has given her.
“Before my gene therapy, I didn’t realize how much of the world I was missing,” Hannah said. “Suddenly I could see details clearly and I even saw a star for the very first time. As my vision improved, my confidence grew and I found the courage to try new things, like horseback riding, which I now love.”
Also featured at the event were Rebecca Ahrens-Nicklas, MD, PhD, Director of CHOP’s Gene Therapy for Inherited Metabolic Disorders Program, and Kiran Musunuru, MD, PhD, MPH, ML, MRA, Co-Director of the Orphan Disease Center. They were joined by 1-year-old KJ Muldoon – who last year became the world’s first recipient of a personalized CRISPR-based gene editing therapy developed by Ahrens-Nicklas and Musunuru. KJ and his family were featured as an example of the transformative power of gene therapy.
The Breakthrough Prizes were created in 2012 by Sergey Brin, Priscilla Chan and Mark Zuckerberg, Yuri and Julia Milner, and Anne Wojcicki. They are awarded across five categories, including Life Sciences, Fundamental Physics and Mathematics.
“This extraordinary recognition is a testament to the power of collaboration and to the many ways scientific innovation benefits children and families,” said Madeline Bell, CHOP’s CEO. “From creating the first FDA-approved gene therapy for a genetic disease to developing a first-of-its-kind personalized gene editing treatment, CHOP and Penn are making breakthroughs that are transforming medicine – and giving children and families everywhere hope for a better future.”
The event was covered by media outlets around the world including The Guardian, USA Today, People Magazine, Scientific American, The Philadelphia Inquirer, The Philadelphia Business Journal and more.
The full award show will premiere on YouTube on Sunday, April 26th at 3PM Eastern / 12PM Pacific.
Watch Hannah and the gene therapy for blindness researchers' speeches here:
Watch KJ, his family and team here:
Featured in this article
Experts
Specialties & Programs
Children’s Hospital of Philadelphia (CHOP) announced that Katherine High, MD, Jean Bennett, MD, PhD, and Albert Maguire, MD, received the Breakthrough Prize in Life Sciences on Saturday, April 18 in Los Angeles, honoring the CHOP and Penn Medicine team’s pioneering work that produced the first FDA-approved gene therapy for an inherited form of blindness. The award, presented at the high-profile ceremony dubbed the “Oscars of Science,” recognized their development of a treatment that substantially restores sight for people with Leber congenital amaurosis (LCA).
In addition to the research team, Hannah Reif, a CHOP patient who was one of the first recipients of the FDA-approved gene therapy for LCA, attended the event with her family. Attendees watched a video documenting Hannah’s treatment.
Introduced by fashion model and television personality Gigi Hadid, Hannah also spoke as part of the event program. During her speech, she thanked CHOP and her doctors for their dedication and perseverance and described the new confidence the treatment has given her.
“Before my gene therapy, I didn’t realize how much of the world I was missing,” Hannah said. “Suddenly I could see details clearly and I even saw a star for the very first time. As my vision improved, my confidence grew and I found the courage to try new things, like horseback riding, which I now love.”
Also featured at the event were Rebecca Ahrens-Nicklas, MD, PhD, Director of CHOP’s Gene Therapy for Inherited Metabolic Disorders Program, and Kiran Musunuru, MD, PhD, MPH, ML, MRA, Co-Director of the Orphan Disease Center. They were joined by 1-year-old KJ Muldoon – who last year became the world’s first recipient of a personalized CRISPR-based gene editing therapy developed by Ahrens-Nicklas and Musunuru. KJ and his family were featured as an example of the transformative power of gene therapy.
The Breakthrough Prizes were created in 2012 by Sergey Brin, Priscilla Chan and Mark Zuckerberg, Yuri and Julia Milner, and Anne Wojcicki. They are awarded across five categories, including Life Sciences, Fundamental Physics and Mathematics.
“This extraordinary recognition is a testament to the power of collaboration and to the many ways scientific innovation benefits children and families,” said Madeline Bell, CHOP’s CEO. “From creating the first FDA-approved gene therapy for a genetic disease to developing a first-of-its-kind personalized gene editing treatment, CHOP and Penn are making breakthroughs that are transforming medicine – and giving children and families everywhere hope for a better future.”
The event was covered by media outlets around the world including The Guardian, USA Today, People Magazine, Scientific American, The Philadelphia Inquirer, The Philadelphia Business Journal and more.
The full award show will premiere on YouTube on Sunday, April 26th at 3PM Eastern / 12PM Pacific.
Watch Hannah and the gene therapy for blindness researchers' speeches here:
Watch KJ, his family and team here:
Recommended reading
New FDA Plausible Mechanism Framework Spurs Development of Personalized In Vivo Prime Editing Platform for Urea Cycle Disorders
Researchers at CHOP, Penn Medicine and partners report a customizable in vivo prime-editing platform to treat infantile-onset urea cycle and other liver genetic diseases.
Marking One-Year Anniversary of World’s First Personalized CRISPR Gene Therapy
February 25, 2026 marks one year since KJ, an infant born with severe carbamoyl phosphate synthetase 1 deficiency, became the world’s first person to receive a personalized CRISPR-based gene editing therapy.
Contact us
Ashley Moore
Gene Therapy for Inherited Metabolic Disorders Program